A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
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Distinguishing ichthyoses by protein profilingAutosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.Detecting Genetic Associations between ATG5 and Lupus Nephritis by trans-eQTL.The role of group IIF-secreted phospholipase A2 in epidermal homeostasis and hyperplasiaInherited ichthyoses/generalized Mendelian disorders of cornification.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Systemic retinoids in the management of ichthyoses and related skin types.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.An overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.Transglutaminase-1 mutations in Omani families with lamellar ichthyosisAutosomal recessive congenital ichthyoses in the Czech Republic.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Revisiting disease genes based on whole-exome sequencing in consanguineous populations.Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.
P2860
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P2860
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@ast
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@en
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@nl
type
label
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@ast
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@en
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@nl
prefLabel
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@ast
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@en
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@nl
P2093
P2860
P1476
A mutation in LIPN, encoding e ...... cessive congenital ichthyosis.
@en
P2093
Dana Fuchs-Telem
Eli Sprecher
Janna Nousbeck
Ofer Sarig
Reuven Bergman
Shirli Israeli
Ziyad Khamaysi
P2860
P304
P356
10.1016/J.AJHG.2011.02.011
P407
P577
2011-04-01T00:00:00Z